Canonical Allele Identifier: CA2580089716

Gene: FBN1

Linked Data

• ClinVar Variation Id: 1754360
• ClinVar RCV Id: RCV002364536

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48434620del , CM000677.2:g.48434620del	GRCh38
NC_000015.9:g.48726817del , CM000677.1:g.48726817del	GRCh37
NC_000015.8:g.46514109del	NCBI36
NG_008805.2:g.216169del , LRG_778:g.216169del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6590del	ENSP00000453958.2:p.Glu2197GlyfsTer5
ENST00000674301.2:c.6590del	ENSP00000501333.2:p.Glu2197GlyfsTer5
ENST00000682170.1:n.199del
ENST00000316623.10:c.6590del MANE Select	ENSP00000325527.5:p.Glu2197GlyfsTer5
ENST00000674301.1:c.1589del	ENSP00000501333.1:p.Glu530GlyfsTer5
ENST00000316623.9:c.6590del	ENSP00000325527.5:p.Glu2197GlyfsTer5
ENST00000537463.6:c.*2353del	ENSP00000440294.2:n.*2353del
ENST00000559133.5:c.1897del
NM_000138.4:c.6590del , LRG_778t1:c.6590del	NP_000129.3:p.Glu2197GlyfsTer5
NM_000138.5:c.6590del MANE Select	NP_000129.3:p.Glu2197GlyfsTer5